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rs199473047

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473047(A;A)
Make rs199473047(A;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position38633180
GeneSCN5A
is asnp
is mentioned by
dbSNPrs199473047
ebirs199473047
HLIrs199473047
Exacrs199473047
Varsomers199473047
Maprs199473047
PheGenIrs199473047
hapmaprs199473047
1000 genomesrs199473047
hgdprs199473047
ensemblrs199473047
gopubmedrs199473047
geneviewrs199473047
scholarrs199473047
googlers199473047
pharmgkbrs199473047
gwascentralrs199473047
openSNPrs199473047
23andMers199473047
23andMe allrs199473047
SNP Nexus

SNPshotrs199473047
SNPdbers199473047
MSV3drs199473047
GWAS Ctlgrs199473047
Max Magnitude0
ClinVar
Risk rs199473047(A;A)
Alt rs199473047(A;A)
Reference rs199473047(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene SCN5A
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000003.11:g.38674671C>T
CLNSRC ClinVar
CLNACC RCV000058412.2,